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Thyroid Hormone Nuclear Receptor pp 225–240Cite as

Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ)

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 1801))

Abstract

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). Affected individuals have consistently high TH levels and non-suppressed thyrotropin in the absence of acute illness, drugs, or alterations in TH binding proteins. Depending on the tissue, features of TH excess and deficiency may coexist, although most individuals have a euthyroid, normal metabolic state at the expense of high TH levels. In most cases the disorder is associated with germline mutations in the THRB gene. In the last decades, advances in genetics have expanded our knowledge on the etiology and pathophysiology of the syndrome and have shed more light on the molecular mechanisms of TH action. This review provides an update on the genetics of RTHβ, summarizes the clinical and biochemical presentation of the syndrome, and describes the methodology used to diagnose and manage individuals with RTHβ.

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Author information

Authors and Affiliations

  1. Department of Medicine, The University of Chicago, Chicago, IL, USA

    Theodora Pappa & Samuel Refetoff

  2. Department of Pediatrics, The University of Chicago, Chicago, IL, USA

    Samuel Refetoff

  3. Committee on Genetics, The University of Chicago, Chicago, IL, USA

    Samuel Refetoff

Authors
  1. Theodora Pappa
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  2. Samuel Refetoff
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Correspondence to Samuel Refetoff .

Editor information

Editors and Affiliations

  1. Centre Léon Bérard, Cancer Research Center of Lyon, Lyon, France

    Michelina Plateroti

  2. École normale supérieure de Lyon, Lyon, France

    Jacques Samarut

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Pappa, T., Refetoff, S. (2018). Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ). In: Plateroti, M., Samarut, J. (eds) Thyroid Hormone Nuclear Receptor. Methods in Molecular Biology, vol 1801. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7902-8_18

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  • DOI: https://doi.org/10.1007/978-1-4939-7902-8_18

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7901-1

  • Online ISBN: 978-1-4939-7902-8

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